Canonical Allele Identifier: CA409227998
Gene: MMP9 HGNC NCBI
SLC12A5-AS1 HGNC NCBI

Linked Data

gnomAD v4: 20-46016322-A-T
MyVariant Identifiers: chr20:g.44644961A>T (hg19) chr20:g.46016322A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46016322A>T , CM000682.2:g.46016322A>T GRCh38
NC_000020.10:g.44644961A>T , CM000682.1:g.44644961A>T GRCh37
NC_000020.9:g.44078368A>T NCBI36
NG_011468.1:g.12415A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2078A>T (MMP9) MANE Select ENSP00000361405.3:p.Gln693Leu
NM_004994.2:c.2078A>T (MMP9) NP_004985.2:p.Gln693Leu
NR_147699.1:n.669-1534T>A (SLC12A5-AS1)
NM_004994.3:c.2078A>T (MMP9) MANE Select NP_004985.2:p.Gln693Leu
Search 100 bp 5'
Search 100 bp 3'